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Weill-Marchesani syndrome

Known as: Weill Marchesani Syndrome, Spherophakia Brachymorphia Syndrome, Syndromes, Spherophakia Brachymorphia 
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g… 
National Institutes of Health

Related topics

Related topics

10 relations
FBN1 wt AlleleIn BloodMarfan SyndromeMicrobiological

Narrower (2)

Weill-Marchesani Syndrome, Autosomal DominantWeill-Marchesani Syndrome, Autosomal Recessive

Papers overview

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2011
2011
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
CONTEXT During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As… 
2011
2011
Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis
Aims: To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and… 
Highly Cited
2002
Highly Cited
2002
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
In 1878, Madelung described a painful, disabling, and deforming abnormality of the forearm in which misalignment of the bones of… 
Review
2002
Review
2002
SHOX haploinsufficiency and its modifying factors.
SHOX (short stature homeobox-containing gene) is the first gene that has been shown to be relevant to the development of specific… 
1986
1986
Weill‐Marchesani syndrome in mother and son
A mother and son, each showing the characteristic features of the Weill‐Marchesani syndrome, are described. It is suggested that… 
1985
1985
Weill-Marchesani syndrome with bilateral angle-closure glaucoma.
To our knowledge this is the first reported case of cyclopentolate induced bilateral acute angle-closure glaucoma associated with… 
1984
1984
Median nerve compression in Weill-Marchesani syndrome.
Weill-Marchesani syndrome is a rare, generalized disorder of connective tissue manifested by short stature, brachymorphia, and… 
1974
1974
Ectopia Lentis et Pupillae
A case of ectopia lentis et pupillae in a nine-month-old male is presented. This entity is an autosomal recessive disorder… 
1956
1956
The spherophakia-brachymorphia syndrome.
In 1939 Marchesani 1 described a syndrome consisting of brachydactyly, spherophakia, and glaucoma in four patients. Since then 27… 
1935
1935
THE TREATMENT OF MILK ALLERGY AND ITS BASIC PRINCIPLES
Hypersensitiveness to milk presents a problem of general interest, although it may be of more immediate concern to the… 
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